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CACNA1H Gene

protein-coding   GIFtS: 68

GC16P001147
calcium channel, voltage-dependent, T type, alpha 1H subunit
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    

Aliases &
Descriptions
for CACNA1H

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
CACNA1HB 2
Cav3.2 1, 2
EIG6 2, 5
FLJ90484 2
Descriptions
Low-voltage-activated calcium channel alpha1 3.2 subunit 2, 3
Voltage-gated calcium channel subunit alpha Cav3.2 3
calcium channel, voltage-dependent, T type, alpha 1H
subunit 2
calcium channel, voltage-dependent, T type, alpha 1Hb
subunit 2
calcium channel, voltage-dependent, alpha 1H subunit 2
low-voltage-activated calcium channel alpha13.2 subunit 2
voltage dependent t-type calcium channel alpha-1H subunit 2
voltage-gated calcium channel alpha subunit Cav3.2 2
voltage-gated calcium channel alpha subunit CavT.2 2
External Ids
HGNC: 13951
Entrez Gene: 89122
UniProtKB: O951803
Ensembl: ENSG000001965577
Search outside databases for aliases for CACNA1H gene

Previous GC identifers: GC16P001220 GC16P001144 GC16P001146

Summaries
for CACNA1H

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for CACNA1H:
This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent
calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon
membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits
in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through
which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex,
either encoded by different genes or the result of alternative splicing of transcripts. Alternate
transcriptional splice variants, encoding different isoforms, have been characterized for the gene
described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy
(CAE). [provided by RefSeq]

UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180
Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into
excitable cells and are also involved in a variety of calcium-dependent processes, including
muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell
division and cell death. The isoform alpha-1H gives rise to T-type calcium currents. T-type
calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by
nickel and mibefradil. A particularity of this type of channels is an opening at quite negative
potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in
both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and
vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons
which is important for information processing as well as in cell growth processes

Gene Wiki entry for CACNA1H

Genomic Location
for CACNA1H

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the CACNA1H gene  

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

CACNA1H Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P001147:     (about GC identifiers)

Start:
 1,143,242 bp from pter
End:
 1,211,773 bp from pter
Size:
 68,532 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000016.8  NT_037887.4  

Proteins
for CACNA1H

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180 (See protein sequence)
Recommended Name: Voltage-dependent T-type calcium channel subunit alpha-1H  
Size: 2353 amino acids; 259163 Da
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAK61268.1; Type=Erroneous gene model prediction; Sequence=CAC42094.1;
Type=Erroneous gene model prediction;
Secondary accessions: O95802 Q8WWI6 Q96QI6 Q96RZ9 Q9NYY4 Q9NYY5
Alternative splicing: 2 isoforms:  O95180-1   O95180-2   

Post-translational modifications:

  • In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (2 alternative transcripts): 
    NP_001005407.1  NP_066921.2  


    ENSEMBL proteins: 
    ENSP00000351401 ENSP00000348945 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (CACNA1H, CACNA1G + CACNA1H)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005891 voltage-gated calcium channel complex TAS10861024
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for CACNA1H: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (CACNA1H, CACNA1G + CACNA1H), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for CACNA1H

    Assays for CACNA1H: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for CACNA1H

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro domains/families:
     IPR005821 Ion_trans
     IPR005445 VDCC_T_a1su


       GeneDecks  CACNA1H for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry O95180

    ProtoNet protein and cluster: O95180

    1 Blocks protein family: IPB005445 T-type voltage-dependent calcium channel alpha-1 subunit signature

    UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180
    Domain: Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2,
    S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent
    the voltage-sensor and are characterized by a series of positively charged amino acids at every
    third position
    Similarity: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family

    Gene Function
    for CACNA1H

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (CACNA1H)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (CACNA1H)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_021098

                  Applied Biosystems Silencer® siRNAs for CACNA1H

                  Sigma-Aldrich siRNA and siRNA Panels for CACNA1H  
                         Sigma-Aldrich shRNA Panels and shRNA for CACNA1H  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001005407
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001005407
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001005407 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_021098

    UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180
    Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into
    excitable cells and are also involved in a variety of calcium-dependent processes, including
    muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell
    division and cell death. The isoform alpha-1H gives rise to T-type calcium currents. T-type
    calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by
    nickel and mibefradil. A particularity of this type of channels is an opening at quite negative
    potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in
    both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and
    vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons
    which is important for information processing as well as in cell growth processes

    Genatlas biochemistry entry for CACNA1H:
    calcium low voltage-activated (LVA) channel (VDCC),alpha 1H subunit,T (fast inactivation,small
    conductance) type,expressed in kidney,brain,heart

    4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cacna1h):

    growth/sizemusclenervous system

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005244 voltage-gated ion channel activity IEA--
    GO:0005509 calcium ion binding IEA--
    GO:0008332 low voltage-gated calcium channel activity TAS10861024
    About this table

    Pathways & Interactions
    for CACNA1H

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    5/9 Invitrogen iPath™ Online BioAtlas - Pathways for CACNA1H (see all 9 ) (Maps provided by GeneGo):
     PKA signaling
     A2BR signaling via G-protein beta/gamma dimer. Activation of PI3K, PLCB and PLA2
     IP3 signaling
     CREB pathway
     Calcium signaling

       GeneDecks  CACNA1H for the pathways selected above  
    About GeneDecksing

    3 Millipore Pathways for CACNA1H
      ion currents
     Transcription CREB pathway
     Calcium channels

       GeneDecks  CACNA1H for the pathways selected above  
    About GeneDecksing

    2 Kegg Pathways  (Kegg details for CACNA1H):
     hsa04010 MAPK signaling pathway
     hsa04020 Calcium signaling pathway

       GeneDecks  CACNA1H for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  CACNA1H 


    5/39 Interacting proteins for CACNA1H (ENSP000003514013) via UniProtKB, MINT, and/or STRING (see all 39 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CACNA2D1ENSP000003493203STRING (score=.989)
    CACNB4ENSP000003435633STRING (score=.948)
    CACNA1CENSP000002663763STRING (score=.929)
    CACNA1EENSP000003565453STRING (score=.921)
    CACNB1ENSP000002019433STRING (score=.92)
    About this table

    5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811 ion transport IEA--
    GO:0006816 calcium ion transport IEA--
    GO:0006936 muscle contraction TAS9670923
    GO:0007517 muscle development NAS9670923
    GO:0007520 myoblast fusion TAS10861024
    About this table

    Drugs & Compounds
    for CACNA1H

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for CACNA1H
    Browse Small Molecules at Sigma-Aldrich

    Compounds for CACNA1H available from Tocris Bioscience
    CompoundAction CAS number
    NNC 55-0396 dihydrochlorideHighly selective Ca2+ channel blocker (T-type)[357400-13-6]
    Mibefradil dihydrochlorideCa2+ channel blocker (T-type)[116644-53-2]
    About this table


    1 Novoseek chemical compound relationship for CACNA1H gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 51.46 10 16883519 (3), 15852375 (1), 16565161 (1), 12200855 (1) (see all 7)
    About this table

    2 PharmGKB drug compound relationships for CACNA1H gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    antiarrhythmicsFA  9670923
    mibefradilFA  9670923
    About this table


    Transcripts
    for CACNA1H

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (CACNA1H)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (CACNA1H)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_021098

                  Sigma-Aldrich siRNA and siRNA Panels for CACNA1H  
                         Sigma-Aldrich shRNA Panels and shRNA for CACNA1H  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001005407  NM_021098  

    REFSEQ mRNAs for CACNA1H gene (2 alternative transcripts): 

    NM_001005407.1   NM_021098.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001005407  NM_021098  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001005407
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001005407
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001005407 

    Additional cDNA sequence: 

    AF051946.3 AF070604.1 AF073931.1 AJ420779.1 AK074965.1 DQ363526.1 DQ363527.1 DQ363528.1 
    DQ363529.1 

    11 DOTS entries:

    DT.100880849  DT.106240  DT.120674752  DT.120674763  DT.120674768  DT.95090623  DT.92423332  DT.95163477 
    DT.95322222  DT.95210133  DT.95329487 

    24/69 AceView cDNA sequences (see all 69 ):

    AW473156 BM127990 BM127741 AA788598 BG396000 BU857411 AI874207 AI167745 
    AA776500 BI964022 AW439335 BM554380 BE552396 AI201132 CK824813 AA503882 
    AI804686 AK074965 AL047084 BI438774 AW006787 CD630642 CK824812 BI439093 

    highest scoring ESTs for CACNA1H:

    AF051946 AA715069 AA776500 AA779225 AA788598 AF070604 AF073931 AI201132 AI659878 AI804686 

    Unigene Cluster for CACNA1H:

    Calcium channel, voltage-dependent, T type, alpha 1H subunit
    Hs.459642  [show with all ESTs]
    Unigene Representative Sequence: NM_021098


    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1H (see all 11 )

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
    SP1:                                                  -                                                                                                         
    SP2:                                                                                                  -                                                         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                  -                                                                                                         

    ExUns: 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        

    About this scheme

    ECgene alternative splicing isoforms for CACNA1H

    2 Ensembl transcripts including schematic representations:
    ENST00000358590  ENST00000356546  

    Expression
    for CACNA1H

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    CACNA1H expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for CACNA1H

    1 / 2 / 3

    5 probe-sets matching CACNA1H gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    37529_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AF051946 1.00 0.90 0.95 1

    		205845_at2, 3 U133-A 1 1.00 1.00 -- -- NM_021098 0.60 0.83 0.73 1

    		222960_at*2, 3 U133-B NULL 0.00 0.00 -- -- AF175522 0.20 0.33 0.27 2

    		205845_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		222960_at*2 U133Plus2 NULL 0.00 0.00 -- -- -- -- -- -- --
    GeneDecks  CACNA1H for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.459642

    Expression variation in blood from EXPOLDB for CACNA1H

    UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180
    Tissue specificity: Expressed in kidney, liver, heart, brain. Isoform 2 seems to be testis-specific

    Orthologs
    for CACNA1H

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for CACNA1H gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 CACNA1H1   -- calcium channel, voltage-dependent, T type, alpha 1H more 84.45(n)
    84.25(a)    		 403533  XM_537016.2  XP_537016.2 
    chimpanzee
    (Pan troglodytes)    		 CACNA1H1   -- calcium channel, voltage-dependent, T type, alpha 1H more 91.13(n)
    87.98(a)    		 453813  XM_001172468.1  XP_001172468.1 
    rat
    (Rattus norvegicus)    		 Cacna1h1   -- calcium channel, voltage-dependent, T type, alpha 1H more 83.48(n)
    86.05(a)    		 114862  NM_153814.1  NP_722521.1 
    mouse
    (Mus musculus)    		 Cacna1h1, 5 17 (7.50 cM)5
    		 calcium channel, voltage-dependent, T type, alpha 1H more1, 5 83.57(n)1
    85.83(a)1    		 582261  NM_021415.31  NP_067390.31 
     AA5496705  AB0418015  (see all 28)
    chicken
    (Gallus gallus)    		 CACNA1H1   -- calcium channel, voltage-dependent, T type, alpha 1H more 73.07(n)
    75.39(a)    		 416526  XM_414830.2  XP_414830.2 
    About this table        Species with no ortholog for CACNA1H

    ENSEMBL Gene Tree for CACNA1H

    Paralogs
    for CACNA1H

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for CACNA1H gene
    CACNA1G2  CACNA1I2  SCN7A2  

    SNPs/Variants
    for CACNA1H

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/771 NCBI SNPs in CACNA1H are shown (see all 771 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 203)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 16 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs10546451,2
    		A,C,F,H,O1210163(+) ACAGCA/GCTGCG 2 R/H mis1 ese39Minor allele frequency- G:0.14EA MN EU WA NA 2242
    rs37518861,2
    		C,F,H1209004(+) CGCAGA/GGTCCT 2 E/G mis1 ese35Minor allele frequency- G:0.08EA EU WA 1920
    rs38096351,2
    		C,F,H1141616(+) TTGAAG/AGCCTA 2 -- ng519Minor allele frequency- A:0.04EA EU WA 2120
    rs49846361,2
    		C,F,H1192442(+) TGTGGT/CCGGGG 2 A/V mis18Minor allele frequency- C:0.20EU EA WA 840
    rs37516641,2
    		C,F,H1194370(+) TGCGCC/TGCATC 2 R/C mis1 ese314Minor allele frequency- T:0.09EA EU WA 3100
    --
    rs80508251,2
    		A,C1141391(+) ccaaaA/Gtgctg 2 -- ng510--------
    rs10546441,2
    		F1210112(+) ACCACG/ACTCCC 2 H/R mis1 ese31Minor allele frequency- A:0.39MN 184
    rs283651191,2
    		F1194442(+) TGGGCG/ATGGAG 2 M/V mis11Minor allele frequency- A:0.01--378
    rs27533251,2
    		A,C,F,H1201223(-) CTGAGC/TGATGA 2 S/S syn1 ese34Minor allele frequency- T:0.22EU EA WA 410
    rs27388931,2
    		A,C,F,H1209030(+) TCCCAC/TTGGCT 2 L/L syn1 ese310Minor allele frequency- T:0.16EA EU WA NA 2226
    About this table

    HapMap Linkage Disequilibrium images for CACNA1H (up to first 250kb)

    Disorders & Mutations
    for CACNA1H

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 607904   disorders: 611942  

    UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180

  • Defects in CACNA1H are a cause of susceptibility to idiopathic generalized epilepsy type 6
    (IGE6) [MIM:611942]. IGE is characterized by recurring generalized seizures in the absence of
    detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and
    simultaneously from both hemispheres of the brain. IGE6 is a polygenic and multifactorial disease

    • 4 Novoseek disease relationships for CACNA1H gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    childhood absence epilepsy 94.85 7 12891677 (3), 17215393 (1), 16565161 (1), 15888660 (1) (see all 5)
    epilepsy, idiopathic generalized 85.03 5 15852375 (2), 16565161 (2), 17696120 (1)
    absence seizures 61.93 1 17215393 (1)
    arrhythmia 20.81 1 15888660 (1)
    About this table

    Human Gene Mutation Database: CACNA1H
    Genetic Association Database: CACNA1H
    Human Genome Epidemiology Navigator: CACNA1H (4 documents)

    Medical News
    for CACNA1H

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for CACNA1H

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/50 PubMed articles for CACNA1H gene (see all 50 ):

    Search for CACNA1H

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CACNA1H

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 8912 HGNC: 1395 AceView: CACNA1H Ensembl:ENSG00000196557 euGenes: HUgn8912
    ECgene: CACNA1H H-InvDB: CACNA1H

    Other Databases showing CACNA1H

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing CACNA1H

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    		   --

    Licensable Technologies
    for CACNA1H

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for CACNA1H

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for CACNA1H:
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     Recombinant Proteins
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     Tocris compounds for CACNA1H




     Drugs for CACNA1H
     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Search Novus for antibodies for CACNA1H

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